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2021 3
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QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
Advani J, Mehta PA, Hamel AR, Mehrotra S, Kiel C, Strunz T, Corso-Díaz X, Kwicklis M, van Asten F, Ratnapriya R, Chew EY, Hernandez DG, Montezuma SR, Ferrington DA, Weber BHF, Segrè AV, Swaroop A. Advani J, et al. Nat Commun. 2024 Mar 4;15(1):1972. doi: 10.1038/s41467-024-46063-8. Nat Commun. 2024. PMID: 38438351 Free PMC article.
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.
Hamel AR, Yan W, Rouhana JM, Monovarfeshani A, Jiang X, Mehta PA, Advani J, Luo Y, Liang Q, Rajasundaram S, Shrivastava A, Duchinski K, Mantena S, Wang J, van Zyl T, Pasquale LR, Swaroop A, Gharahkhani P, Khawaja AP, MacGregor S; International Glaucoma Genetics Consortium (IGGC); Chen R, Vitart V, Sanes JR, Wiggs JL, Segrè AV. Hamel AR, et al. Nat Commun. 2024 Jan 9;15(1):396. doi: 10.1038/s41467-023-44380-y. Nat Commun. 2024. PMID: 38195602 Free PMC article.
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
Advani J, Corso-Diaz X, Kwicklis M, van Asten F, Ratnapriya R, Mehta P, Hamel A, Mahrotra S, Segrè A, Kiel C, Strunz T, Weber B, Chew E, Hernandez D, Montezuma S, Ferrington D, Swaroop A. Advani J, et al. Res Sq [Preprint]. 2023 Jun 16:rs.3.rs-3011096. doi: 10.21203/rs.3.rs-3011096/v1. Res Sq. 2023. PMID: 37398472 Free PMC article. Updated. Preprint.
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.
Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, Pasutto F, Hammond C, Young TL, Hysi P, Lotery AJ, Jorgenson E, Choquet H, Hauser M, Cooke Bailey JN, Nakazawa T, Akiyama M, Shiga Y, Fuller ZL, Wang X, Hewitt AW, Craig JE, Pasquale LR, Mackey DA, Wiggs JL, Khawaja AP, Segrè AV; 23andMe Research Team; International Glaucoma Genetics Consortium; MacGregor S. Han X, et al. Nat Genet. 2023 Jul;55(7):1116-1125. doi: 10.1038/s41588-023-01428-5. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386247 Free PMC article.
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function.
Eraslan G, Drokhlyansky E, Anand S, Fiskin E, Subramanian A, Slyper M, Wang J, Van Wittenberghe N, Rouhana JM, Waldman J, Ashenberg O, Lek M, Dionne D, Win TS, Cuoco MS, Kuksenko O, Tsankov AM, Branton PA, Marshall JL, Greka A, Getz G, Segrè AV, Aguet F, Rozenblatt-Rosen O, Ardlie KG, Regev A. Eraslan G, et al. Science. 2022 May 13;376(6594):eabl4290. doi: 10.1126/science.abl4290. Epub 2022 May 13. Science. 2022. PMID: 35549429 Free PMC article.
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